Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02256:Nhlrc2'

286577

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nhlrc2

Ensembl Gene

ENSMUSG00000025078

Gene Name

NHL repeat containing 2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02256

Quality Score

Status

Chromosome

Chromosomal Location

56548261-56598846 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56597361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 676 (E676G)

Ref Sequence

ENSEMBL: ENSMUSP00000071370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071423]

AlphaFold

Q8BZW8

Predicted Effect

probably benign
Transcript: ENSMUST00000071423
AA Change: E676G

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000071370
Gene: ENSMUSG00000025078
AA Change: E676G

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin_8	78	174	2.7e-14	PFAM
LY	216	258	8.44e0	SMART
Pfam:NHL	278	304	2.3e-9	PFAM
low complexity region	321	331	N/A	INTRINSIC
Blast:LY	402	446	5e-8	BLAST
LY	467	509	1.91e0	SMART
Pfam:NHL	530	558	1.2e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambra1	T	A	2: 91,769,054	V173E	possibly damaging	Het
BC005561	T	A	5: 104,520,283	Y890*	probably null	Het
BC037034	C	A	5: 138,260,315	D557Y	probably damaging	Het
Dennd4c	A	G	4: 86,799,541	T592A	probably damaging	Het
Dhcr24	G	A	4: 106,572,320	G197S	probably damaging	Het
Fat1	A	G	8: 44,950,332	Y40C	probably damaging	Het
Fbxl17	A	C	17: 63,499,090	C310G	probably benign	Het
Hdac10	T	C	15: 89,125,894		probably benign	Het
Hist1h2bg	G	T	13: 23,571,435	M1I	probably null	Het
Mcm6	A	G	1: 128,335,728		probably null	Het
Mrpl19	G	A	6: 81,964,319	T87I	probably benign	Het
Mzf1	A	G	7: 13,052,737		probably benign	Het
Notch3	T	C	17: 32,132,324	D1899G	probably damaging	Het
Nxph1	A	G	6: 9,247,185	D52G	probably benign	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr171	T	C	16: 19,625,006	I31M	probably benign	Het
Olfr418	A	T	1: 173,270,627	I151F	probably benign	Het
Olfr913	G	A	9: 38,594,544	V108I	probably benign	Het
Olfr918	A	T	9: 38,673,480	M1K	probably null	Het
Olfr980	A	G	9: 40,006,053	F299L	probably benign	Het
Pax6	T	C	2: 105,684,770	V54A	probably benign	Het
Pbx1	A	T	1: 168,183,602	H376Q	possibly damaging	Het
Prpf4b	T	A	13: 34,899,878	C877S	probably damaging	Het
Robo3	A	G	9: 37,425,353	L373P	probably damaging	Het
Samd9l	G	A	6: 3,376,197	R355W	probably damaging	Het
Smarce1	A	T	11: 99,219,380	N127K	possibly damaging	Het
Sptbn1	T	C	11: 30,120,990	I1511V	probably benign	Het
Stab1	C	T	14: 31,141,592	R2071H	probably damaging	Het
Svep1	A	T	4: 58,070,311	C2492S	possibly damaging	Het
Tbr1	C	A	2: 61,804,874	T56N	probably damaging	Het
Tlr6	T	C	5: 64,954,944	T207A	probably benign	Het
Tmem241	A	G	18: 12,113,432	W54R	probably damaging	Het
Tmem87a	A	G	2: 120,377,896	V326A	probably damaging	Het
Uroc1	A	G	6: 90,346,687	D372G	possibly damaging	Het
Zc3h7a	A	C	16: 11,147,276	S664R	probably benign	Het

Other mutations in Nhlrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Nhlrc2	APN	19	56551799	nonsense	probably null
IGL01524:Nhlrc2	APN	19	56576155	missense	probably benign	0.39
IGL01570:Nhlrc2	APN	19	56574787	missense	possibly damaging	0.87
IGL01653:Nhlrc2	APN	19	56570850	missense	probably benign	0.25
IGL02303:Nhlrc2	APN	19	56574848	missense	probably damaging	1.00
IGL02349:Nhlrc2	APN	19	56591719	missense	possibly damaging	0.94
IGL02501:Nhlrc2	APN	19	56570654	nonsense	probably null
R0270:Nhlrc2	UTSW	19	56551870	missense	probably damaging	1.00
R0454:Nhlrc2	UTSW	19	56570527	missense	probably damaging	1.00
R2022:Nhlrc2	UTSW	19	56597278	missense	probably benign	0.06
R3854:Nhlrc2	UTSW	19	56588271	critical splice donor site	probably null
R3855:Nhlrc2	UTSW	19	56588271	critical splice donor site	probably null
R3856:Nhlrc2	UTSW	19	56588271	critical splice donor site	probably null
R4659:Nhlrc2	UTSW	19	56576267	missense	possibly damaging	0.86
R4767:Nhlrc2	UTSW	19	56570466	missense	probably benign	0.03
R4992:Nhlrc2	UTSW	19	56570534	missense	probably benign	0.00
R5877:Nhlrc2	UTSW	19	56570584	missense	probably damaging	1.00
R6191:Nhlrc2	UTSW	19	56570859	missense	probably benign	0.00
R6755:Nhlrc2	UTSW	19	56591784	missense	probably benign	0.12
R7164:Nhlrc2	UTSW	19	56592499	missense	probably damaging	1.00
R7507:Nhlrc2	UTSW	19	56597378	missense	not run
R7609:Nhlrc2	UTSW	19	56594896	missense	probably benign
R8811:Nhlrc2	UTSW	19	56594912	missense	probably benign	0.03
R8849:Nhlrc2	UTSW	19	56591752	missense	possibly damaging	0.72

Posted On

2015-04-16